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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
KIF5C - Kinesin Family Member 5C
Alias:
KINN
NKHC
NKHC2
CDCBM2
NKHC-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种参与中枢神经系统内货物运输的动蛋白重链亚基。编码的蛋白质通过与另一个重链和两个轻链结合而以四聚体形式发挥作用,与蛋白激酶CK2相互作用。这个基因的突变与伴有其他脑畸形的复杂皮质发育不良-2有关。已发现这个基因有两个转录变异体,一个编码蛋白质,另一个不编码蛋白质。[由RefSeq,2015年7月提供]
Related ID:
NCBI:3800
ENSEMBL:ENSG00000168280
HGNC:6325
UNIPROT:O60282
OMIM:604593
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3800
4
26
151533 bp
109.50
195
2
6
10
KIF5C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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